%0 Journal Article %1 Elpeleg1992 %A Elpeleg, O. N. %A Amir, N. %A Christensen, E. %D 1992 %J J Pediatr %K Cerebral Palsy; Child, Preschool; Diagnostic Errors; Female; Fumarate Hydratase; Fumarates; Humans; Mental Retardation; Metabolism, Inborn Muscle Hypotonia; Succinates; Succinic Acid %N 5 Pt 1 %P 752--754 %T Variability of clinical presentation in fumarate hydratase deficiency. %V 121 %X A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10\% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy.

@article{Elpeleg1992, abstract = {A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10\% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy.}, added-at = {2014-07-19T19:24:59.000+0200}, author = {Elpeleg, O. N. and Amir, N. and Christensen, E.}, biburl = {https://www.bibsonomy.org/bibtex/2e7c3d9335e90d780a4491427e045d485/ar0berts}, groups = {public}, interhash = {e4894ceb0ddfb0c3bdbdd254d8053000}, intrahash = {e7c3d9335e90d780a4491427e045d485}, journal = {J Pediatr}, keywords = {Cerebral Palsy; Child, Preschool; Diagnostic Errors; Female; Fumarate Hydratase; Fumarates; Humans; Mental Retardation; Metabolism, Inborn Muscle Hypotonia; Succinates; Succinic Acid}, month = Nov, number = {5 Pt 1}, pages = {752--754}, pmid = {1432428}, timestamp = {2014-07-19T19:24:59.000+0200}, title = {Variability of clinical presentation in fumarate hydratase deficiency.}, username = {ar0berts}, volume = 121, year = 1992 }